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November 24, 2025Clinical GeneticsOpen Access

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype

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Authors

AAArda ArduçAmsterdam University CollegeMMMerel C. van MaarleAmsterdam University Medical CentersPLPeter LaufferAmsterdam Neuroscience

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Cite This Study

Arduç et al. (2025) studied this question.

synapsesocial.com/papers/69403b822d562116f290bf54https://doi.org/10.1111/cge.70115
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Also Consider

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  1. 1A novel homozygous <i>FAM92A</i> gene (<i>CIBAR1</i>) variant further confirms its association with non‐syndromic postaxial polydactyly type <scp>A9</scp> (<scp>PAPA9</scp>)2024 · 2 citations
  2. 2A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome2025 · 1 citations
  3. 3Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and <i>in silico</i> functional characterization2025 · 1 citations
  4. 4Blended Phenotype Involving FBN1 and Novel PIGL Variants of Uncertain Significance: A Prenatal Case Report2026
  5. 5High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects2024 · 6 citations